20p11.23-p11.21 deletion in a child with hyperinsulinemic hypoglycemia and GH deficiency: A case report
Author:
Affiliation:
1. Department of Pediatrics, Saitama Medical Center Jichi Medical University, Saitama, Japan
2. Division of Medical Genetics, Saitama Children’s Medical Center, Saitama, Japan
Publisher
Japanese Society for Pediatric Endocrinology
Subject
Endocrinology,Endocrinology, Diabetes and Metabolism,Pediatrics, Perinatology and Child Health
Link
https://www.jstage.jst.go.jp/article/cpe/30/3/30_2020-0074/_pdf
Reference17 articles.
1. 1. Thompson-Branch, A, Havranek, T. Neonatal hypoglycemia. Pediatr Rev 2017;38: 147–57.
2. 2. Dayem-Quere, M, Giuliano, F, Wagner-Mahler, K, Massol, C, Crouzet-Ozenda, L, Lambert, JC, et al. Delineation of a region responsible for panhypopituitarism in 20p11.2. Am J Med Genet A 2013;161A: 1547–54.
3. 3. Vajravelu, ME, Chai, J, Krock, B, Baker, S, Langdon, D, Alter, C, et al. Congenital hyperinsulinism and hypopituitarism attributable to a mutation in FOXA2. J Clin Endocrinol Metab 2018;103: 1042–7.
4. 4. Yorifuji, T, Horikawa, R, Hasegawa, T, Adachi, M, Soneda, S, Minagawa, M, et al. (on behalf of The Japanese Society for Pediatric Endocrinology and The Japanese Society of Pediatric Surgeons). Clinical practice guidelines for congenital hyperinsulinism. Clin Pediatr Endocrinol 2017;26: 127–52.
5. 5. Williams, PG, Wetherbee, JJ, Rosenfeld, JA, Hersh, JH. 20p11 deletion in a female child with panhypopituitarism, cleft lip and palate, dysmorphic facial features, global developmental delay and seizure disorder. Am J Med Genet A 2011;155A: 186–91.
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1. Chromosome 20p11.2 deletions cause congenital hyperinsulinism via the loss of FOXA2 or its regulatory elements;European Journal of Human Genetics;2024-04-11
2. Chromosome 20p11.2 deletions cause congenital hyperinsulinism via the likely disruption ofFOXA2;2023-08-21
3. Hyperinsulinemic Hypoglycemia and Growth Hormone Deficiency Secondary to 20p11 Deletion;Case Reports in Endocrinology;2023-06-26
4. Copy number variation in pituitary stalk interruption syndrome: A large case series of sporadic non‐syndromic patients and literature review;Journal of Neuroendocrinology;2022-12-10
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